Investigation of Association between Genetic Diversities in Yq11.223 Region with Men Infertility in Isfahan Population

Document Type : Original Article (s)

Authors

1 Assistant Professor, Division of Genetics, Department of Biology, School of Sciences, University of Isfahan, Isfahan, Iran

2 Division of Genetics, Department of Biology, School of Sciences, University of Isfahan, Isfahan, Iran

3 Assistant Professor, Department of Oncology and Radiotherapy, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: Infertility is one of the important human problems. One of the main genetic factors of infertility is the deletions in the chromosome Y‚ which is reported in 10-15% of men with severe azoospermia and oligospermia. Three regions in azoospermia factor (AZFa), (AZFb) and (AZFc) are specified as the spermatogenetic regions. In this study we investigated the effect of changes in Yq11.223 (DAZ) region in chromosome Y on infertility.Methods: In this study the blood samples of 100 infertile men who referred to the Infertility Center of Isfahan and 100 healthy people, as the control group were taken. The genomic DNA was extracted from blood samples. The analyses were performed by applying the polymerase chain reaction (PCR) technique in AZF region of Yq11.223.Finding: In this study 70 azoospermia and 30 oligospermia patients were investigated. The deletions in AZF region of Yq11.223 were recognized in 7 azoospermia patients but there were not detected in oligospermia patients and the control group. It was also observed that the intensity of bands were changed comparing between azoospermia patients.Conclusion: Deletion frequency in the region of Yq11.223 was observed in 7 of 100 (7%) infertile Oligospermia and Azoospermia men. Our results confirm the effect of DAZ in the man’s infertility.

Keywords

References

  1. Speroff L, Class RH, Kase NC. Clinical Genyocolog Endocrinology and Infertility; 1013-1014. 6th ed. Philadelphia: Lippincott Willams&Wiklins; 1999. p. 1013-4.
  2. Yeom HJ, Her YS, Oh MJ, Paul S, Park MS, Yeoun JP, et al. Application of multiplex bead array assay for Yq microdeletion analysis in infertile males. Mol Cell Probes 2008; 22(2): 76-82.
  3. Burgoyne PS, Baker TG. Meiotic pairing and gametogenic failure. Symp Soc Exp Biol 1984; 38: 349-62.
  4. Vicdan A, Vicdan K, Gunalp S, Kence A, Akarsu C, Isik AZ, et al. Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility. Eur J Obstet Gynecol Reprod Biol 2004; 117(1): 49-54.
  5. Spiridonov NA, Wong L, Zerfas PM, Starost MF, Pack SD, Paweletz CP, et al. Identification and characterization of SSTK, a serine/threonine protein kinase essential for male fertility. Mol Cell Biol 2005; 25(10): 4250-61.
  6. Meschede D, Horst J. The molecular genetics of male infertility. Mol Hum Reprod 1997; 3(5): 419-30.
  7. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34(2): 119-24.
  8. Fitch N, Richer CL, Pinsky L, Kahn A. Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities. Am J Med Genet 1985; 20(1): 31-42.
  9. Hartung M, Devictor M, Codaccioni JL, Stahl A. Yq deletion and failure of spermatogenesis. Ann Genet 1988; 31(1): 21-6.
  10. Johnson MD, Tho SP, Behzadian A, McDonough PG. Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. Am J Obstet Gynecol 1989; 161(6 Pt 1): 1732-7.
  11. Skare J, Drwinga H, Wyandt H, vanderSpek J, Troxler R, Milunsky A. Interstitial deletion involving most of Yq. Am J Med Genet 1990; 36(4): 394-7.
  12. Ferlin A, Moro E, Onisto M, Toscano E, Bettella A, Foresta C. Absence of testicular DAZ gene expression in idiopathic severe testiculopathies. Hum Reprod 1999; 14(9): 2286-92.
  13. Becherini L, Guarducci E, Degl'Innocenti S, Rotondi M, Forti G, Krausz C. DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkable ethnic differences. Int J Androl 2004; 27(6): 375-81.
  14. Habermann B, Mi HF, Edelmann A, Bohring C, Backert IT, Kiesewetter F, et al. DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails. Hum Reprod 1998; 13(2): 363-9.
  15. Fox MS, Reijo Pera RA. Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair. Mol Cell Endocrinol 2001; 184(1-2): 41-9.
  16. Viswambharan N, Suganthi R, Simon AM, Manonayaki S. Male infertility: polymerase chain reaction-based deletion mapping of genes on the human chromosome. Singapore Med J 2007; 48(12): 1140-2.
  17. Ristanovic M, Bunjevacki V, Tulic C, Novakovic I, Nikolic A. Molecular analysis of Y chromosome microdeletions in idiopathic cases of male infertility in Serbia. Genetika 2007; 43(6): 850-4.
  18. Simoni M, Kamischke A, Nieschlag E. Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility. Initiative for international quality control. Hum Reprod 1998; 13(7): 1764-8.
  19. Foresta C, Ferlin A, Garolla A, Rossato M, Barbaux S, De Bortoli A. Y-chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997; 82(4): 1075-80.
  20. de Vries JW, Hoffer MJ, Repping S, Hoovers JM, Leschot NJ, van d, V. Reduced copy number of DAZ genes in subfertile and infertile men. Fertil Steril 2002; 77(1): 68-75.
Journal of Isfahan Medical School
Volume 29, Issue 142 - Serial Number 142
May and June 2011
Pages 707-714

Files

History

  • Receive Date: 10 June 2011
  • Revise Date: 01 November 2024
  • Accept Date: 06 April 2022

Share

How to cite

Statistics